ClinVar Miner

Submissions for variant NM_001110556.2(FLNA):c.4899C>T (p.Arg1633=)

gnomAD frequency: 0.00002  dbSNP: rs781846478
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000865300 SCV001006242 likely benign Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 2021-01-08 criteria provided, single submitter clinical testing
GeneDx RCV001533923 SCV001750799 likely benign not provided 2020-12-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816970 SCV002065032 uncertain significance not specified 2017-09-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV003169117 SCV003857252 likely benign Familial thoracic aortic aneurysm and aortic dissection 2023-03-03 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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